Canonical Allele Identifier: CA6872118
Gene: DHX37 HGNC NCBI

Linked Data

ClinVar Variation Id: 2076572
dbSNP Id: rs201628977

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124968868T>C , CM000674.2:g.124968868T>C GRCh38
NC_000012.11:g.125453414T>C , CM000674.1:g.125453414T>C GRCh37
NC_000012.10:g.124019367T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308736.7:c.1292A>G MANE Select ENSP00000311135.2:p.Lys431Arg
ENST00000544745.2:c.763A>G
ENST00000679875.1:n.1364A>G
ENST00000308736.6:c.1292A>G ENSP00000311135.2:p.Lys431Arg
ENST00000539298.1:n.1392A>G
ENST00000544745.1:c.653A>G ENSP00000439009.1:p.Lys218Arg
NM_032656.3:c.1292A>G NP_116045.2:p.Lys431Arg
XM_005253590.2:c.1292A>G XP_005253647.1:p.Lys431Arg
XM_011538597.1:c.1292A>G XP_011536899.1:p.Lys431Arg
XM_011538598.1:c.1292A>G XP_011536900.1:p.Lys431Arg
XM_011538599.1:c.1292A>G XP_011536901.1:p.Lys431Arg
XM_011538600.1:c.1292A>G XP_011536902.1:p.Lys431Arg
XM_005253590.3:c.1292A>G XP_005253647.1:p.Lys431Arg
XM_011538598.2:c.1292A>G XP_011536900.1:p.Lys431Arg
XM_011538600.2:c.1292A>G XP_011536902.1:p.Lys431Arg
XR_001748819.1:n.1395A>G
XR_001748820.1:n.1395A>G
NM_032656.4:c.1292A>G MANE Select NP_116045.2:p.Lys431Arg